Isolated anencephaly/exencephaly
ORPHA:1048· ICD-10 Q04.8
Definition
A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal malformation is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).
- Prevalence
- 1-9 / 100 000
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal